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Physicians usually do not suspect pulmonary thromboembolism in younger   patients except in those who have thrombophilia. In those latter patients   some special conditions such as trauma or surgery may provoke the disease. In   some adult persons, thrombophilia may still remain unrecognized, until   appearance of additional conditions influence development of thrombosis. A   55-year-old Caucasian female, non-smoker, experienced sudden chest pain and   hemoptysis without chest trauma. History taking revealed type 2 diabetes   mellitus and hypothyroidism. She was overweight with body mass index 29.0.   The review of the family history revealed that her father and mother died of   brain infarction, while her 22-year-old son and 24-year-old daughter were   healthy. Due to suspicion for thrombosis, multi-slice computerized tomography   thorax scan was done and pulmonary embolism was diagnosed. Although without   clear risk factor for thrombosis in our patient, we performed laboratory   investigation for congenital thrombophilia. Genetic analysis showed double   heterozygous for factor V Leiden and prothrombin 20210 G>A mutations.   Congenital thrombophilia was risk factor for thrombosis in our patient but   haemostatic imbalance was not previously clinically recognized. She had two   pregnancies without complications. Appearance of other associative factors   such as endocrine disorders - hypothyroidism and metabolic syndrome with   diabetes type 2, and overweigh were additional potential triggers for   clinical manifestation of pulmonary thromboembolism in her adult age. Her   children underwent genetic analysis, too. The son was also double   heterozygous for factor V Leiden and prothrombin 20210 G>A mutations, while   daughter was heterozygous for factor V Leiden, and none had clinical signs of   thrombosis. [Projekat Ministarstva nauke Republike Srbije, br. ON175081 i br.   ON 175091

Phenotypic presentation of thrombophilia in double heterozygote for factor v leiden and prothrombin 20210 G>A mutations: Case report